Hutchinson-Gilford progeria syndrome Disease

About Gene:

Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear normal at birth.

Number of Patients: 0

Disease Causing Genes:

LMNA TP53 UBA7 SERPINE1 CDKN1A RFC1 PCNA PRPS1 ANK3 HDAC2 XPA XPO1 LEF1 RAN PCGF2 ACAN LEMD2 EMD NAT10 LPAR3

Sign and Symptoms:

  1. Slow height and weight growth A bigger head Large eyes, which they can’t close all the way A small lower jaw A thin nose with a "beaked" tip Ears that stick out Veins you can see Slow and abnormal tooth growth A high-pitched voice Loss of body fat and muscle Hair loss, including eyelashes and eyebrows Thin, wrinkled skin that shows spots

Diagnosis:

(1) Medical history collection (2) Biochemical test (3) Radiographic findings

Preventions:

Treatment: